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Congenital cataract

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https://www.readbyqxmd.com/read/27933154/improving-diagnosis-for-congenital-cataract-by-introducing-ngs-genetic-testing
#1
Mohammud Musleh, Jane Ashworth, Graeme Black, Georgina Hall
Childhood cataract (CC) has an incidence of 3.5 per 10,000 by age 15 years. Diagnosis of any underlying cause is important to ensure effective and prompt management of multisystem complications, to facilitate accurate genetic counselling and to streamline multidisciplinary care. Next generation sequencing (NGS) has been shown to be effective in providing an underlying diagnosis in 70% of patients with CC in a research setting. This project aimed to integrate NGS testing in CC within six months of presentation and increase the rate of diagnosis...
2016: BMJ Quality Improvement Reports
https://www.readbyqxmd.com/read/27916715/360-degree-trabeculotomy-for-medically-refractory-glaucoma-following-cataract-surgery-and-juvenile-open-angle-glaucoma
#2
Maria E Lim, Jennifer B Dao, Sharon F Freedman
PURPOSE: While angle surgeries show good success in primary congenital glaucoma, reported success in glaucoma following cataract surgery (GFCS) and juvenile open angle glaucoma (JOAG) is variable and with relatively short follow-up. We evaluated longer-term outcomes of 360-trabeculotomy for medically-refractory GFCS and JOAG. DESIGN: Retrospective case series. METHODS: First operated eyes of consecutive patients with medically-refractory GFCS and JOAG in a single-surgeon pediatric glaucoma practice who underwent illuminated microcatheter-assisted 360-trabeculotomy from 2/2008-6/2015 were reviewed...
December 1, 2016: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/27898986/congenital-cataracts-classification-and-association-with-anterior-segment-abnormalities
#3
Manuel B Datiles, J Fielding Hejtmancik
No abstract text is available yet for this article.
November 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27898985/a-novel-congenital-cataract-category-system-based-on-lens-opacity-locations-and-relevant-anterior-segment-characteristics
#4
Haotian Lin, Duoru Lin, Zhenzhen Liu, Erping Long, Xiaohang Wu, Qianzhong Cao, Jingjing Chen, Zhuoling Lin, Xiaoyan Li, Li Zhang, Hui Chen, Xiayin Zhang, Jing Li, Weirong Chen, Yizhi Liu
Purpose: We compared the anterior segment characteristics of congenital cataract (CC) patients with lens opacities in different locations and proposed a modified, simple CC category system. Methods: Cataractous eyes of CC patients were classified into four groups based on the locations of lens opacities shown in slit-lamp examinations and by a 3-dimensional anterior segment imaging system as follows: total, anterior, interior, and posterior cataracts. The mean keratometry value, corneal astigmatism (CA), central corneal thickness (CCT), and anterior chamber depth (ACD) of eyes in different groups were compared...
November 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27866070/spontaneous-rupture-of-chorioretinal-coloboma-in-an-8-year-old-child-treated-by-temporal-fascia-graft
#5
Hélène Chan, Marie-Noëlle Delyfer, Jacmine Pechmeja, Clémence Andrèbe, Audrey-Elodie Mercier, Cyril Dutheil, Jean-François Korobelnik, Clément Paya
We report the rare case of an 8-year-old boy with spontaneous scleral perforation secondary to an isolated congenital chorioretinal coloboma. Visual acuity was 20/200 and examination revealed severe hypotony with subcapsular cataract, complete exudative retinal detachment, hypotonous optic nerve swelling, and hypotony retinal fold. In the temporal periphery, there was a chorioretinal coloboma with a central full-thickness defect. The scleral defect was successfully treated with an autologous temporalis fascia graft...
November 16, 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27845541/how-the-baby-learns-to-see-donald-o-hebb-award-lecture-canadian-society-for-brain-behaviour-and-cognitive-science-ottawa-june-2015
#6
Daphne Maurer
Hebb's (1949) book The Organisation of Behaviour presented a novel hypothesis about how the baby learns to see. This article summarizes the results of my research program that evaluated Hebb's hypothesis: first, by studying infants' eye movements and initial perceptual abilities and second, by studying the effect of visual deprivation (e.g., congenital cataracts) on later perceptual development. Collectively, the results support Hebb's hypothesis that the baby does indeed learn to see. Early visual experience not only drives the baby's initial scanning of objects, but also sets up the neural architecture that will come to underlie adults' perception...
September 2016: Canadian Journal of Experimental Psychology, Revue Canadienne de Psychologie Expérimentale
https://www.readbyqxmd.com/read/27843899/dissecting-aortic-aneurysm-55-years-after-diagnosis-of-iris-flocculi
#7
Jerry A Shields, George N Magrath, Carol Shields, Richard Mackool, Ralph C Eagle, Hans E Grossniklaus
PURPOSE: The aim of this study is to report the clinical features, imaging studies, surgical removal, and pathology of congenital iris flocculi in a patient who developed a life-threatening dissecting aortic aneurysm after 55 years of follow-up. METHODS: Documentation with iris photography was performed from age 18 to 55 years, at which time anterior segment optical coherence tomography (OCT) was performed. At the time of subsequent cataract surgery, the iris flocculi were removed in each eye and submitted for light and electron microscopy...
October 2016: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/27843434/peters-anomaly-in-twins-a-case-report-of-a-rare-incident-with-novel-comorbidities
#8
Hashem S Almarzouki, Alaa A Tayyib, Hassan A Khayat, Raed E Alsulami, Saeed M Alzahrani, Abdulaziz S Alkahtani, Loai S Alghifees
INTRODUCTION: Peters anomaly is a rare developmental malformation involving the anterior segment of the eye, which culminates in amblyopia or congenital blindness. Multiple ocular and/or systemic malformations have been observed with this anomaly, and novel comorbidities continue to be reported. CASE PRESENTATION: The probands were monozygotic twin boys (twin I and twin II) born to consanguineous parents at 36 weeks of gestation. Coarse facial features and deep-seated eyes were noted at birth...
September 2016: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/27826760/myotonic-dystrophy-type-1-management-and-therapeutics
#9
REVIEW
Cheryl A Smith, Laurie Gutmann
Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy. It is a multisystem disorder with a complex pathophysiology. Although inheritance is autosomal dominant, disease variability is attributed to anticipation, a maternal expansion bias, variable penetrance, somatic mosaicism, and a multitude of aberrant pre-mRNA splicing events. Patient presentations range from asymptomatic or mild late onset adult to severe congenital forms. Multiple organ systems may be affected. Patients may experience early cataracts, myotonia, muscle weakness/atrophy, fatigue, excessive daytime sleepiness, central/obstructive apnea, respiratory failure, cardiac arrhythmia, insulin resistance, dysphagia, GI dysmotility, cognitive impairment, Cluster C personality traits, and/or mood disorders...
December 2016: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/27822637/red-reflex-examination-in-neonates-evaluation-of-3-years-of-screening
#10
Carlo Cagini, Gianluigi Tosi, Fabrizio Stracci, Victoria Elisa Rinaldi, Alberto Verrotti
PURPOSE: Red reflex is a test that can detect potentially life-threatening ocular abnormalities. In 2012, a red reflex screening campaign was started in Umbria, central Italy. In this study, we report the results of the first 3 years (2012-2014) of screening. METHODS: Red reflex screening was carried out in the 11 regional birth centres. On the first level, the test was performed on all newborns within the third day of life. A pathologic test was an indication for referral to the nearest Ophthalmology Hospital Department (II level)...
November 7, 2016: International Ophthalmology
https://www.readbyqxmd.com/read/27817115/-ant-egg-cataract-revisited
#11
Kåre Clemmensen, Jan J Enghild, Anders Ivarsen, Ruth Riise, Henrik Vorum, Steffen Heegaard
PURPOSE: Hereditary congenital cataract varies immensely concerning location and form of the lens opacities. A specific and very rare phenotype is called "ant-egg" cataract first described in 1900. "Ant-eggs" have previously been examined using light microscopy, backscattered electron imaging and X-ray scans and electron microscopy. The purpose of this study was to further characterize "ant-egg" cataract using modern technology and display the history of the "ant-eggs" after cataract extraction...
November 5, 2016: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/27815186/strabismus-surgery-outcomes-in-the-infant-aphakia-treatment-study-iats-at-age-5-years
#12
Erick D Bothun, Michael J Lynn, Stephen P Christiansen, Stacey J Kruger, Deborah K Vanderveen, Dan E Neely, Scott R Lambert
PURPOSE: To report strabismus surgery frequency and outcomes after monocular infantile cataract surgery with or without IOL implantation. METHODS: The Infant Aphakia Treatment Study (IATS) is a randomized, multicenter clinical trial comparing treatment of aphakia with a primary IOL or contact lens in 114 infants with a unilateral congenital cataract. This report is a secondary outcome analysis of ocular motor data from IATS patients who underwent strabismus surgery prior to age 5 years...
December 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27814360/mutation-in-lim2-is-responsible-for-autosomal-recessive-congenital-cataracts
#13
Bushra Irum, Shahid Y Khan, Muhammad Ali, Haiba Kaul, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Raheela Nadeem, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin
PURPOSE: To identify the molecular basis of non-syndromic autosomal recessive congenital cataracts (arCC) in a consanguineous family. METHODS: All family members participating in the study received a comprehensive ophthalmic examination to determine their ocular phenotype and contributed a blood sample, from which genomic DNA was extracted. Available medical records and interviews with the family were used to compile the medical history of the family. The symptomatic history of the individuals exhibiting cataracts was confirmed by slit-lamp biomicroscopy...
2016: PloS One
https://www.readbyqxmd.com/read/27809833/interocular-anatomical-and-visual-functional-differences-in-pediatric-patients-with-unilateral-cataracts
#14
Erping Long, Jingjing Chen, Zhenzhen Liu, Zhuoling Lin, Qianzhong Cao, Xiayin Zhang, Xiaoyan Li, Lixia Luo, Haotian Lin, Weirong Chen, Yizhi Liu
BACKGROUND: Congenital cataracts are often complicated by anterior segment dysgenesis. This study aims to compare bilateral anterior segment parameters, macular thickness, and best-corrected visual acuity (BCVA) in pediatric cataract patients at 3 months after unilateral cataract extraction with intraocular lens implantation. METHODS: Fifty-three pediatric patients with uncomplicated unilateral total cataracts were included. At 3 months post-surgery, bilateral corneal thickness at the thinnest location (CTTL), anterior chamber depth (ACD), and anterior chamber volume (ACV) were measured using Pentacam...
November 3, 2016: BMC Ophthalmology
https://www.readbyqxmd.com/read/27795795/cataract-surgery-with-intraocular-lens-implantation-in-children-aged-5-15-in-local-anaesthesia-visual-outcomes-and-complications
#15
Kagmeni Giles, Domngang Christelle, Bilong Yannick, Otto Herrmann Fricke, Peter Wiedemann
The aim of this study was to report feasibility, the visual outcomes and complications of pediatric cataract surgery with primary intraocular lens implantation in children aged 5 to15 years in local anesthesia. This retrospective interventional case series included 62 eyes from 50 children who underwent pediatrc cataract surgery with primary intraocular lens implantation at the Mana eye Clinic Nkongsamba between 2006 and 2015 Main outcome measures were: best-corrected post operative visual acuity, and intraoperative and postoperative complications...
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27792754/characterization-of-zebrafish-models-of-marinesco-sj%C3%A3-gren-syndrome
#16
Genri Kawahara, Yukiko K Hayashi
SIL1 is a nucleotide exchange factor for the endoplasmic reticulum chaperone, BiP. Mutations in the SIL1 gene cause Marinesco-Sjögren syndrome (MSS), an autosomal recessive disease characterized by cerebellar ataxia, mental retardation, congenital cataracts, and myopathy. To create novel zebrafish models of MSS for therapeutic drug screening, we analyzed phenotypes in sil1 knock down fish by two different antisense oligo morpholinos. Both sil1 morphants had abnormal formation of muscle fibers and irregularity of the myosepta...
2016: PloS One
https://www.readbyqxmd.com/read/27790796/functional-characterization-and-rescue-of-a-deep-intronic-mutation-in-ocrl-gene-responsible-for-lowe-syndrome
#17
John Rendu, Rodrick Montjean, Charles Coutton, Mohnish Suri, Gaetan Chicanne, Anne Petiot, Julie Brocard, Didier Grunwald, France Pietri Rouxel, Bernard Payrastre, Joel Lunardi, Olivier Dorseuil, Isabelle Marty, Julien Fauré
Dent-2 disease and Lowe syndrome are two pathologies caused by mutations in inositol polyphosphate 5-phosphatase OCRL gene. Both conditions share proximal tubulopathy evolving to chronic kidney failure. Lowe syndrome is in addition defined by a bilateral congenital cataract, intellectual disability, and hypotonia. The pathology evolves in two decades to a severe condition with renal complications and a fatal issue. We describe here a proof of principle for a targeted gene therapy on a mutation of the OCRL gene that is associated with Lowe syndrome...
October 28, 2016: Human Mutation
https://www.readbyqxmd.com/read/27785597/exome-sequencing-identifies-a-novel-mutation-in-gja8-associated-with-inherited-cataract-in-a-chinese-family
#18
Mei Ren, Xin Guang Yang, Xiao Jie Dang, Jin An Xiao
BACKGROUND: Congenital cataract is a clinical and genetic heterogeneous group of eye disorders that causes visual impairment and childhood blindness. In this study, a Chinese family with congenital cataract is studied. METHODS: In order to identify the genetic defects which were associated with congenital cataract, a whole-exome sequencing approach is performed to screen for the potential mutation-causing disease. RESULTS: The result revealed a novel heterozygous mutation (c...
October 26, 2016: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/27764520/warburg-micro-syndrome-type-1-associated-with-peripheral-neuropathy-and-cardiomyopathy
#19
D Kabzińska, H Mierzewska, J Senderek, A Kochański
The Warburg micro syndrome (WARBM) is a genetically heterogeneous syndrome linked to at least 4 loci. At the clinical level, WARBM is characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, corpus callosum hypoplasia, severe mental retardation, and hypogonadism. In some families additional clinical features have been reported. The presence of uncommon clinical features (peripheral neuropathy, cardiomyopathy) may result in misdirected molecular diagnostics. Using the next generation sequencing approach (NGS), we were able to diagnose WARBM1 syndrome by detection of a new mutation within the RAB3GAP1 gene...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27754416/congenital-cataracts-and-gut-dysmotility-in-a-dync1h1-dyneinopathy-patient
#20
Rose Gelineau-Morel, Marshall Lukacs, K Nicole Weaver, Robert B Hufnagel, Donald L Gilbert, Rolf W Stottmann
Whole exome sequencing continues to end the diagnostic odyssey for a number of patients and expands our knowledge of phenotypes associated with gene mutations. We describe an 11-year-old female patient with a constellation of symptoms including congenital cataracts, gut dysmotility, sensory neuropathy, and bifrontal polymicrogyria. Whole exome sequencing was performed and identified a de novo heterozygous missense mutation in the ATPase motor domain of cytoplasmic dynein heavy chain 1 (DYNC1H1), which is known to be involved in neuronal migration and retrograde axonal transport...
October 14, 2016: Genes
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